MCID: RNL100
MIFTS: 52

Renal Hypodysplasia/aplasia 1 malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 49 22 67
Renal Agenesis 49 10 45 22 47 12 51 67
Renal Adysplasia 10 11 22 24 65 67
Renal Aplasia 10 22 67
Urogenital Adysplasia, Hereditary 45 22
Bilateral Renal Agenesis 45 22
Rhda1 22 67
 
Bra 45 22
Hereditary Urogenital Adysplasia 10
Renal Agenesis, Bilateral 51
Hereditary Renal Agenesis 45
Hereditary Renal Aplasia 10
Hra 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
renal agenesis, bilateral:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Italy),1-9/100000 (Netherlands),1-5/10000 (Ireland),1-9/100000 (Norway),1-9/100000 (Poland),1-9/1000000 (Spain),1-9/100000 (Hungary),1-5/10000 (Denmark),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Malta),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal; Age of death: infantile


External Ids:

OMIM49 191830
Disease Ontology10 DOID:14766
Orphanet51 1848, 411709
ICD10 via Orphanet28 Q60.1
MESH via Orphanet37 C536482
ICD1027 Q60.1

Summaries for Renal Hypodysplasia/aplasia 1

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OMIM:49 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia,... (191830) more...

MalaCards based summary: Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to linear nevus sebaceus syndrome and fraser syndrome, and has symptoms including epicanthus, hypertelorism and abnormality of the nose. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin, Alpha 8). Affiliated tissues include kidney, uterus and lung, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:67 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Related Diseases for Renal Hypodysplasia/aplasia 1

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Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 254)
idRelated DiseaseScoreTop Affiliating Genes
1linear nevus sebaceus syndrome30.5AGTR2, PAX2
2fraser syndrome30.3FRAS1, FREM1, FREM2, FREM3, GRIP1, ITGA8
3branchiooculofacial syndrome30.1EYA1, SALL1, SIX5
4charge syndrome29.9ANOS1, FGFR1, PAX2
5costello syndrome10.8
6vaginitis10.5
7jejunal atresia with renal adysplasia10.5
8potter's syndrome10.4
9aniridia renal agenesis psychomotor retardation10.4
10renal adysplasia dominant type10.4
11cervicitis10.4
12renal agenesis, unilateral10.4
13oligohydramnios10.3
14kallmann syndrome10.3
15kidney disease10.3
16aniridia ataxia renal agenesis psychomotor retardation10.3
17double uterus-hemivagina-renal agenesis10.3
18schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.3
19hypogonadism cardiomyopathy10.2GDNF, RET
20cryptorchidism10.2
21urethritis10.2
22hydronephrosis10.2
23infertility10.2
24prostatitis10.2
25bilateral renal agenesis dominant type10.2
26sirenomelia10.2
27renal dysplasia10.2
28renal hypoplasia10.2
29intestinal perforation10.2CFTR, GDNF, RET
30epidermal nevus, somatic10.2
31myopathy10.2
32woolly hair nevus10.2
33multiple endocrine neoplasia iib10.2GDNF, RET
34ornithosis10.2GDNF, RET, SIX5
35c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia10.2EYA1, SIX5
36renal hypodysplasia/aplasia 210.2
37primary hyperoxaluria10.2
38polycystic kidney disease10.2
39adenocarcinoma10.2
40cryptophthalmos10.2
41renal agenesis meningomyelocele mullerian defect10.2
42chromosome 15q25 deletion syndrome10.2FRAS1, FREM2
43splenic tuberculosis10.1CFTR, FREM1
44microphthalmia, isolated 110.1FRAS1, SALL1
45syndromic intellectual disability10.1FRAS1, FREM2, GRIP1
46arthritis10.1
47dengue disease10.1
48dengue hemorrhagic fever10.1
49hypophosphatemia10.1
50embryonal rhabdomyosarcoma10.1

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:



Diseases related to renal hypodysplasia/aplasia 1

Symptoms for Renal Hypodysplasia/aplasia 1

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Symptoms by clinical synopsis from OMIM:

191830

Clinical features from OMIM:

191830

Symptoms:

 51 (show all 18)
  • hypertelorism
  • epicanthic folds
  • short columella/depressed nasal tip
  • low set ears/posteriorly rotated ears
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • stillbirth/neonatal death
  • oligoamnios
  • micrognathia/retrognathia/micrognathism/retrognathism
  • sacro-coccyx/sacrum anomaly
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • intestinal/colonic anomaly
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • congenital cardiac anomaly/malformation/cardiopathy
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sirenomelia/mermaid/lower limb fusion
  • uterine/uterus/fallopian tubes anomalies

HPO human phenotypes related to Renal Hypodysplasia/aplasia 1:

(show all 35)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 hypertelorism hallmark (90%) HP:0000316
3 abnormality of the nose hallmark (90%) HP:0000366
4 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
5 oligohydramnios hallmark (90%) HP:0001562
6 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
7 renal hypoplasia/aplasia hallmark (90%) HP:0008678
8 micrognathia typical (50%) HP:0000347
9 abnormality of the intestine typical (50%) HP:0002242
10 malformation of the heart and great vessels typical (50%) HP:0002564
11 tracheoesophageal fistula typical (50%) HP:0002575
12 abnormality of the sacrum typical (50%) HP:0005107
13 urogenital fistula typical (50%) HP:0100589
14 abnormality of female internal genitalia occasional (7.5%) HP:0000008
15 cleft palate occasional (7.5%) HP:0000175
16 sirenomelia occasional (7.5%) HP:0010497
17 non-midline cleft lip occasional (7.5%) HP:0100335
18 autosomal dominant inheritance HP:0000006
19 autosomal recessive inheritance HP:0000007
20 proteinuria HP:0000093
21 renal agenesis HP:0000104
22 renal dysplasia HP:0000110
23 vaginal atresia HP:0000148
24 retrognathia HP:0000278
25 hypertelorism HP:0000316
26 low-set ears HP:0000369
27 primary amenorrhea HP:0000786
28 bicornuate uterus HP:0000813
29 hypertension HP:0000822
30 oligohydramnios HP:0001562
31 abnormality of the foot HP:0001760
32 talipes equinovarus HP:0001762
33 potter facies HP:0002009
34 pulmonary hypoplasia HP:0002089
35 congenital onset HP:0003577

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

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Genetic tests related to Renal Hypodysplasia/aplasia 1:

id Genetic test Affiliating Genes
1 Renal Agenesis22 RET
2 Renal Hypodysplasia/aplasia 122 ITGA8
3 Urogenital Adysplasia, Hereditary22
4 Renal Adysplasia24

Anatomical Context for Renal Hypodysplasia/aplasia 1

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MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

33
Kidney, Uterus, Lung, Heart, Colon

Animal Models for Renal Hypodysplasia/aplasia 1 or affiliated genes

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MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9CFTR, EYA1, FGFR1, FRAS1, FREM1, FREM2
2MP:00053778.9EYA1, FGF20, FGFR1, FREM2, ITGA8, PAX2
3MP:00053718.9FGFR1, FRAS1, FREM1, FREM2, GRIP1, RET
4MP:00053888.4CFTR, EYA1, FRAS1, FREM1, FREM2, ITGA8
5MP:00053698.1AGTR2, EYA1, FGFR1, FREM1, GDNF, RET
6MP:00028738.1CFTR, EYA1, FGFR1, FREM1, RET, ROBO2
7MP:00053918.0CFTR, EYA1, FGFR1, FRAS1, FREM1, FREM2
8MP:00053797.9AGTR2, CFTR, EYA1, FGFR1, FREM1, GDNF
9MP:00053817.8AGTR2, CFTR, EYA1, FGFR1, FRAS1, FREM1
10MP:00053867.8AGTR2, CFTR, EYA1, FGFR1, GDNF, ITGA8
11MP:00053897.7CFTR, EYA1, FREM1, FREM2, GDNF, PAX2
12MP:00053847.2AGTR2, CFTR, EYA1, FGFR1, FRAS1, GDNF
13MP:00053857.0AGTR2, EYA1, FGFR1, FRAS1, FREM2, GDNF
14MP:00036316.8AGTR2, EYA1, FGF20, FGFR1, FREM1, FREM2
15MP:00053676.6AGTR2, EYA1, FGFR1, FRAS1, FREM1, FREM2
16MP:00107686.3AGTR2, CFTR, EYA1, FGFR1, FRAS1, FREM1

Publications for Renal Hypodysplasia/aplasia 1

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Variations for Renal Hypodysplasia/aplasia 1

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UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

67
id Symbol AA change Variation ID SNP ID
1ITGA8p.Gly407ArgVAR_071107

Clinvar genetic disease variations for Renal Hypodysplasia/aplasia 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ITGA8NM_003638.2(ITGA8): c.2982+2T> Csingle nucleotide variantPathogenicrs587777279GRCh37Chr 10, 15573047: 15573047
2ITGA8NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs)deletionPathogenicrs587777280GRCh37Chr 10, 15649814: 15649818
3ITGA8NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg)single nucleotide variantPathogenicrs374664941GRCh37Chr 10, 15686209: 15686209
4FGF20NM_019851.2(FGF20): c.337delG (p.Val113Trpfs)deletionPathogenicrs587777282GRCh37Chr 8, 16853217: 16853217

Expression for genes affiliated with Renal Hypodysplasia/aplasia 1

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Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for genes affiliated with Renal Hypodysplasia/aplasia 1

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GO Terms for genes affiliated with Renal Hypodysplasia/aplasia 1

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Cellular components related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.3FRAS1, FREM1, FREM2, FREM3

Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1ureter maturationGO:003579910.7PAX2, RET
2positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.7GDNF, PAX2
3enteric nervous system developmentGO:004848410.7GDNF, RET
4regulation of metanephros sizeGO:003556610.7AGTR2, PAX2
5positive regulation of metanephric glomerulus developmentGO:007230010.5AGTR2, PAX2, RET
6mesodermal cell fate specificationGO:000750110.5PAX2, SIX2
7morphogenesis of an epitheliumGO:000200910.4FRAS1, FREM2
8cochlea morphogenesisGO:009010310.4EYA1, PAX2
9organ inductionGO:000175910.3FGFR1, GDNF
10positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2AGTR2, GDNF, PAX2, SALL1
11mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.1GDNF, PAX2, SALL1, SIX2
12branching involved in ureteric bud morphogenesisGO:000165810.0EYA1, GDNF, PAX2, SALL1
13outer ear morphogenesisGO:004247310.0EYA1, FGFR1, SALL1
14cell communicationGO:00071549.9FRAS1, FREM1, FREM2, FREM3
15positive regulation of transcription, DNA-templatedGO:00458939.7AGTR2, GRIP1, PAX2, RET, SALL1
16middle ear morphogenesisGO:00424749.7EYA1, FGFR1, SIX2
17kidney developmentGO:00018229.7AGTR2, ITGA8, SALL1, SIX2
18metanephros developmentGO:00016569.3EYA1, GDNF, ITGA8, ROBO2, SIX2
19positive regulation of cell proliferationGO:00082849.3AGTR2, FGF20, FGFR1, GDNF, PAX2
20inner ear morphogenesisGO:00424729.3EYA1, FGFR1, ITGA8, PAX2
21ureteric bud developmentGO:00016578.9EYA1, FGFR1, GDNF, RET, ROBO2, SALL1
22brain developmentGO:00074208.8AGTR2, FGFR1, ITGA8, ROBO2
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.8EYA1, GDNF, PAX2, SALL1, SIX2, SIX5
24axon guidanceGO:00074118.3ANOS1, FGF20, FGFR1, GDNF, ROBO2

Sources for Renal Hypodysplasia/aplasia 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet